id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-337678-vh6dpf4e	Calò, Lorenzo A	Are the Clinical Presentations (Phenotypes) of Gitelman’s and Bartter’s Syndromes Gene Mutations Driven by Their Effects on Intracellular pH, Their “pH” Enotype?	2020-08-07		.txt	text/plain	4935	220	41	We suggest that linkage between the specific gene defects identified in GS and BS and the myriad of distinctive and frequently overlapping clinical findings may be the result of aberrant glycosylation of ACE2 driven by altered TGN/endosome system acidification caused by the metabolic alkalosis brought about by these salt-losing tubulopathies in addition to their altered intracellular calcium signaling due to a blunted second messenger induced intracellular calcium release that is, in turn, amplified by the RAS system. Gitelman's syndrome (GS) is a genetic tubulopathy caused by loss-of-function mutations in the SLC12A3 gene, which encodes the Na + -Cl − cotransporter and is characterized by hypokalemic metabolic alkalosis, hypocalciuria, hypomagnesemia, activated Renin-Angiotensin System (RAS) and high Angiotensin II (Ang II) levels.	./cache/cord-337678-vh6dpf4e.txt	./txt/cord-337678-vh6dpf4e.txt